NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) AND Lethal osteosclerotic bone dysplasia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Aug 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496013.3
Allele description [Variation Report for NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)]
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)
Condition(s)
- Name:
- Lethal osteosclerotic bone dysplasia (RNS)
- Synonyms:
- Raine syndrome; Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis; Osteomalacia, sclerosing, with cerebral calcification
- Identifiers:
- MONDO: MONDO:0009821; MedGen: C1850106; Orphanet: 1832; OMIM: 259775
Assertion and evidence details
Last Updated: Mar 10, 2024